Sfoglia per Autore
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy.
2012 Achilli A.; Iommarini L.; Olivieri A.; Pala M.; Hooshiar Kashani B.; Reynier P.; La Morgia C.; Valentino M.L.; Liguori R.; Pizza F.; Barboni P.; Sadun F.; De Negri A.M.; Zeviani M.; Dollfus H.; Moulignier A.; Ducos G.; Orssaud C.; Bonneau D.; Procaccio V.; Leo-Kottler B.; Fauser S.; Wissinger B.; Amati-Bonneau P.; Torroni A.; Carelli V.
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy.
2013 Barboni P;Valentino ML;La Morgia C;Carbonelli M;Savini G;De Negri A;Simonelli F;Sadun F;Caporali L;Maresca A;Liguori R;Baruzzi A;Zeviani M;Carelli V
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions.
2013 Caporali L;Ghelli AM;Iommarini L;Maresca A;Valentino ML;La Morgia C;Liguori R;Zanna C;Barboni P;De Nardo V;Martinuzzi A;Rizzo G;Tonon C;Lodi R;Calvaruso MA;Cappelletti M;Porcelli AM;Achilli A;Pala M;Torroni A;Carelli V
Microcystic macular degeneration from optic neuropathy: not inflammatory, not trans-synaptic degeneration.
2013 P. Barboni;V. Carelli;G. Savini;M. Carbonelli;C. L. Morgia;A. A. Sadun
Retinal function and neural conduction along the visual pathways in affected and unaffected carriers with Leber's hereditary optic neuropathy.
2013 L. Ziccardi;F. Sadun;A. M. De;P. Barboni;G. Savini;E. Borrelli;C. L. Morgia;V. Carelli;V. Parisi
Mitochondrial dysfunction in optic neuropathies: animal models and therapeutic options.
2013 V. Carelli;C. L. Morgia;A. A. Sadun
Double Dissociation Between Severe Cipo, Mild Neurological, And Severe Neuroradiological Findings: Presentation Of 6 Cases Of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
2013 Tonon; LL Gramegna; DN Manners; C Testa; R Rinaldi; R De Giorgio; C La Morgia; G Rizzo; E Boschetti; F Giancola; C Casali; E Malucelli; C Bianchini; V Stanghellini; V Carelli; R Lodi
Diffusion Tensor Study Of Brain White Matter In OPA1-Dominant Optic Atrophy And Leber's Hereditary Optic Atrophy
2013 Manners DN; Rizzo G; La Morgia C; Tonon C; Testa C; Barboni P; Malucelli E; Valentino ML; Carelli V; Lodi R
Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern?
2013 La Morgia C.; Barboni P.; Rizzo G.; Carbonelli M.; Savini G.; Scaglione C.; Capellari S.; Bonazza S.; Giannoccaro M.P.; Calandra-Buonaura G.; Liguori R.; Cortelli P.; Martinelli P.; Baruzzi A.; Carelli V.
The pupil light reflex in Leber's hereditary optic neuropathy: evidence for preservation of melanopsin-expressing retinal ganglion cells.
2013 A. L. Moura;B. V. Nagy;C. L. Morgia;P. Barboni;A. G. Fernandes;S. R. Salomão;A. Berezovsky;M. N. de;C. F. Chicani;R. Belfort;V. Carelli;A. A. Sadun;D. C. Hood;D. F. Ventura
Mitochondrial optic neuropathies: our travels from bench to bedside and back again.
2013 A. A. Sadun;C. L. Morgia;V. Carelli
The optic nerve: a "mito-window" on mitochondrial neurodegeneration.
2013 Maresca A; la Morgia C; Caporali L; Valentino ML; Carelli V
Mitochondrial optic neuropathies: additional facts and concepts - response
2014 Sadun AA;La Morgia C;Carelli V
Medical management of hereditary optic neuropathies
2014 La Morgia, Chiara; Carbonelli, Michele; Barboni, Piero; Sadun, Alfredo Arrigo; Carelli, Valerio
Early macular retinal ganglion cell loss in dominant optic atrophy: Genotype-phenotype correlation
2014 Barboni, P.; Savini, G.; Cascavilla, M.L.; Caporali, L.; Milesi, J.; Borrelli, E.; La Morgia, C.; Valentino, M.L.; Triolo, G.; Lembo, A.; Carta, A.; De Negri, A.; Sadun, F.; Rizzo, G.; Parisi, V.; Pierro, L.; Bianchi Marzoli, S.; Zeviani, M.; Sadun, A.A.; Bandello, F.; Carelli, V.
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance.
2014 Carossa V;Ghelli A;Tropeano CV;Valentino ML;Iommarini L;Maresca A;Caporali L;Morgia CL;Liguori R;Barboni P;Carbonelli M;Rizzo G;Tonon C;Lodi R;Martinuzzi A;Nardo VD;Rugolo M;Ferretti L;Gandini F;Pala M;Achilli A;Olivieri A;Torroni A;Carelli V
Genetic Basis of Mitochondrial Optic Neuropathies.
2014 Maresca A;Caporali L;Strobbe D;Zanna C;Malavolta D;La Morgia C;Valentino ML;Carelli V
Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1.
2014 K. K. Moghadam;F. Pizza;C. Tonon;R. Lodi;V. Carelli;F. Poli;C. Franceschini;P. Barboni;M. Seri;S. Ferrari;C. L. Morgia;C. Testa;F. Cornelio;R. Liguori;J. Winkelmann;L. Lin;E. Mignot;G. Plazzi
Mitochondrial abnormalities in fibroblasts carrying DNMT1 mutations
2014 Maresca A; Zanna C; Del Dotto V; Caporali L; Moghadam KK; Pizza F; La Morgia C; Melberg A; Mignot E; Plazzi G; Carelli V
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions
2014 C. La Morgia; L. Caporali; F. Gandini; A. Olivieri; F. Toni; S. Nassetti; D. Brunetto; C. Stipa; C. Scaduto; A. Parmeggiani; C. Tonon; R. Lodi; A. Torroni; V. Carelli
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy. | Achilli A.; Iommarini L.; Olivieri A.; Pala M.; Hooshiar Kashani B.; Reynier P.; La Morgia C.; Va...lentino M.L.; Liguori R.; Pizza F.; Barboni P.; Sadun F.; De Negri A.M.; Zeviani M.; Dollfus H.; Moulignier A.; Ducos G.; Orssaud C.; Bonneau D.; Procaccio V.; Leo-Kottler B.; Fauser S.; Wissinger B.; Amati-Bonneau P.; Torroni A.; Carelli V. | 2012-01-01 | PLOS ONE | - | 1.01 Articolo in rivista | pone.0042242.pdf; pone.0042242.s001.pdf; pone.0042242.s002.pdf; pone.0042242.s003.pdf; pone.0042242.s004.pdf; pone.0042242.s005.pdf; pone.0042242.s006.pdf |
| Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. | Barboni P;Valentino ML;La Morgia C;Carbonelli M;Savini G;De Negri A;Simonelli F;Sadun F;Caporali ...L;Maresca A;Liguori R;Baruzzi A;Zeviani M;Carelli V | 2013-01-01 | BRAIN | - | 1.01 Articolo in rivista | - |
| Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. | Caporali L;Ghelli AM;Iommarini L;Maresca A;Valentino ML;La Morgia C;Liguori R;Zanna C;Barboni P;D...e Nardo V;Martinuzzi A;Rizzo G;Tonon C;Lodi R;Calvaruso MA;Cappelletti M;Porcelli AM;Achilli A;Pala M;Torroni A;Carelli V | 2013-01-01 | BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE | - | 1.01 Articolo in rivista | - |
| Microcystic macular degeneration from optic neuropathy: not inflammatory, not trans-synaptic degeneration. | P. Barboni;V. Carelli;G. Savini;M. Carbonelli;C. L. Morgia;A. A. Sadun | 2013-01-01 | BRAIN | - | 1.01 Articolo in rivista | - |
| Retinal function and neural conduction along the visual pathways in affected and unaffected carriers with Leber's hereditary optic neuropathy. | L. Ziccardi;F. Sadun;A. M. De;P. Barboni;G. Savini;E. Borrelli;C. L. Morgia;V. Carelli;V. Parisi | 2013-01-01 | INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | - | 1.01 Articolo in rivista | - |
| Mitochondrial dysfunction in optic neuropathies: animal models and therapeutic options. | V. Carelli;C. L. Morgia;A. A. Sadun | 2013-01-01 | CURRENT OPINION IN NEUROLOGY | - | 1.01 Articolo in rivista | - |
| Double Dissociation Between Severe Cipo, Mild Neurological, And Severe Neuroradiological Findings: Presentation Of 6 Cases Of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) | Tonon; LL Gramegna; DN Manners; C Testa; R Rinaldi; R De Giorgio; C La Morgia; G Rizzo; E Boschet...ti; F Giancola; C Casali; E Malucelli; C Bianchini; V Stanghellini; V Carelli; R Lodi | 2013-01-01 | - | - | 4.02 Riassunto (Abstract) | - |
| Diffusion Tensor Study Of Brain White Matter In OPA1-Dominant Optic Atrophy And Leber's Hereditary Optic Atrophy | Manners DN; Rizzo G; La Morgia C; Tonon C; Testa C; Barboni P; Malucelli E; Valentino ML; Carelli... V; Lodi R | 2013-01-01 | - | - | 4.03 Poster | - |
| Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern? | La Morgia C.; Barboni P.; Rizzo G.; Carbonelli M.; Savini G.; Scaglione C.; Capellari S.; Bonazza... S.; Giannoccaro M.P.; Calandra-Buonaura G.; Liguori R.; Cortelli P.; Martinelli P.; Baruzzi A.; Carelli V. | 2013-01-01 | EUROPEAN JOURNAL OF NEUROLOGY | - | 1.01 Articolo in rivista | - |
| The pupil light reflex in Leber's hereditary optic neuropathy: evidence for preservation of melanopsin-expressing retinal ganglion cells. | A. L. Moura;B. V. Nagy;C. L. Morgia;P. Barboni;A. G. Fernandes;S. R. Salomão;A. Berezovsky;M. N. ...de;C. F. Chicani;R. Belfort;V. Carelli;A. A. Sadun;D. C. Hood;D. F. Ventura | 2013-01-01 | INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | - | 1.01 Articolo in rivista | - |
| Mitochondrial optic neuropathies: our travels from bench to bedside and back again. | A. A. Sadun;C. L. Morgia;V. Carelli | 2013-01-01 | CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY | - | 1.01 Articolo in rivista | - |
| The optic nerve: a "mito-window" on mitochondrial neurodegeneration. | Maresca A; la Morgia C; Caporali L; Valentino ML; Carelli V | 2013-01-01 | MOLECULAR AND CELLULAR NEUROSCIENCES | - | 1.01 Articolo in rivista | - |
| Mitochondrial optic neuropathies: additional facts and concepts - response | Sadun AA;La Morgia C;Carelli V | 2014-01-01 | CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY | - | 1.01 Articolo in rivista | - |
| Medical management of hereditary optic neuropathies | La Morgia, Chiara; Carbonelli, Michele; Barboni, Piero; Sadun, Alfredo Arrigo; Carelli, Valerio | 2014-01-01 | FRONTIERS IN NEUROLOGY | - | 1.01 Articolo in rivista | - |
| Early macular retinal ganglion cell loss in dominant optic atrophy: Genotype-phenotype correlation | Barboni, P.; Savini, G.; Cascavilla, M.L.; Caporali, L.; Milesi, J.; Borrelli, E.; La Morgia, C.;... Valentino, M.L.; Triolo, G.; Lembo, A.; Carta, A.; De Negri, A.; Sadun, F.; Rizzo, G.; Parisi, V.; Pierro, L.; Bianchi Marzoli, S.; Zeviani, M.; Sadun, A.A.; Bandello, F.; Carelli, V. | 2014-01-01 | AMERICAN JOURNAL OF OPHTHALMOLOGY | - | 1.01 Articolo in rivista | - |
| A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance. | Carossa V;Ghelli A;Tropeano CV;Valentino ML;Iommarini L;Maresca A;Caporali L;Morgia CL;Liguori R;...Barboni P;Carbonelli M;Rizzo G;Tonon C;Lodi R;Martinuzzi A;Nardo VD;Rugolo M;Ferretti L;Gandini F;Pala M;Achilli A;Olivieri A;Torroni A;Carelli V | 2014-01-01 | HUMAN MUTATION | - | 1.01 Articolo in rivista | - |
| Genetic Basis of Mitochondrial Optic Neuropathies. | Maresca A;Caporali L;Strobbe D;Zanna C;Malavolta D;La Morgia C;Valentino ML;Carelli V | 2014-01-01 | CURRENT MOLECULAR MEDICINE | - | 1.01 Articolo in rivista | - |
| Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1. | K. K. Moghadam;F. Pizza;C. Tonon;R. Lodi;V. Carelli;F. Poli;C. Franceschini;P. Barboni;M. Seri;S.... Ferrari;C. L. Morgia;C. Testa;F. Cornelio;R. Liguori;J. Winkelmann;L. Lin;E. Mignot;G. Plazzi | 2014-01-01 | SLEEP MEDICINE | - | 1.01 Articolo in rivista | - |
| Mitochondrial abnormalities in fibroblasts carrying DNMT1 mutations | Maresca A; Zanna C; Del Dotto V; Caporali L; Moghadam KK; Pizza F; La Morgia C; Melberg A; Mignot... E; Plazzi G; Carelli V | 2014-01-01 | - | - | 4.02 Riassunto (Abstract) | - |
| Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions |
C. La Morgia; L. Caporali; F. Gandini; A. Olivieri; F. Toni; S. Nassetti; D. Brunetto; C. Stipa;... C. Scaduto; A. Parmeggiani; C. Tonon; R. Lodi; A. Torroni; V. Carelli |
2014-01-01 | BMC NEUROLOGY | - | 1.01 Articolo in rivista | 1471-2377-14-116.pdf |
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